Variant report

Variant	rs148645230
Chromosome Location	chr18:12325202-12325203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12325110..12326750-chr18:12329700..12331543,2	K562	blood:
2	chr18:12306580..12311152-chr18:12324883..12329594,7	K562	blood:
3	chr18:12306391..12309580-chr18:12325150..12328267,3	MCF-7	breast:
4	chr18:12321262..12324555-chr18:12324806..12328664,5	K562	blood:
5	chr18:12311936..12317885-chr18:12323414..12329476,8	K562	blood:

Variant related genes	Relation type
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
10	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	esv3428049	chr18:12324002-12326800	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12310000-12325800	Weak transcription	Fetal Kidney	kidney
2	chr18:12312600-12332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:12314000-12333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:12314200-12327800	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
6	chr18:12316400-12333600	Weak transcription	Fetal Brain Male	brain
7	chr18:12316600-12327000	Weak transcription	Stomach Mucosa	stomach
8	chr18:12316800-12327600	Strong transcription	HUVEC	blood vessel
9	chr18:12318000-12331200	Strong transcription	HMEC	breast
10	chr18:12318400-12334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:12318600-12331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:12318800-12327200	Weak transcription	Right Atrium	heart
13	chr18:12318800-12327600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr18:12319000-12333800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr18:12319000-12336800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:12319600-12325400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:12320200-12331200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:12320400-12328000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr18:12320600-12331400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr18:12320800-12348200	Strong transcription	Fetal Intestine Small	intestine
21	chr18:12321200-12331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:12321200-12331600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr18:12321400-12326000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:12321400-12327000	Strong transcription	HSMMtube	muscle
25	chr18:12321600-12326000	Strong transcription	Adipose Nuclei	Adipose
26	chr18:12321600-12326200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:12321600-12326200	Weak transcription	Fetal Heart	heart
28	chr18:12321600-12326400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:12321600-12326600	Strong transcription	HSMM	muscle
30	chr18:12321600-12326800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:12321600-12326800	Strong transcription	Fetal Muscle Leg	muscle
32	chr18:12321600-12327600	Strong transcription	NHDF-Ad	bronchial
33	chr18:12321600-12330000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:12321800-12326400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr18:12321800-12326800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:12321800-12327200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr18:12321800-12327400	Strong transcription	Osteobl	bone
38	chr18:12323000-12327400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:12323000-12327600	Strong transcription	NHEK	skin
40	chr18:12323000-12327800	Strong transcription	Placenta	Placenta
41	chr18:12323000-12330200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr18:12323000-12332400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr18:12323400-12326000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:12323400-12342800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr18:12323600-12329800	Strong transcription	Fetal Thymus	thymus
46	chr18:12323800-12331400	Strong transcription	Primary T cells from cord blood	blood
47	chr18:12324200-12329800	Strong transcription	Fetal Lung	lung
48	chr18:12324400-12327200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr18:12324400-12327400	Strong transcription	Colon Smooth Muscle	Colon
50	chr18:12324400-12327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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